UCSD finds cause of brain disorder

Neural precursor cells derived from a pontocerebellar hypoplasia patient. The image on the left shows cells before treatment, and the one on the right shows the cells after treatment.
Naiara Akizu/Gleeson Laboratory

Scientists at UC San Diego say they've identified a gene mutation that appears to cause one of the most severe forms of pontocerebellar hypoplasia, an incurable, debilitating neurological disorder that often kills people before they can pass out of childhood.

The discovery was made by an international team led by Joseph Gleeson, a UCSD neuroscientist at Rady's Children's Hospital who says it's possible that a nutritional supplement might be capable of reversing or preventing the disease. But the treatment hasn't been extensively tested.

Ponotocerebellar hyoplasia refers to a group of neurological disorders that vary in severity. Gleeson -- a Howard Hughes Medical Institute investigator -- focused on one of the worst types, and found that the disease was caused by mutations in the gene AMPD2. The mutations prevent proteins from synthesizing normally, leading a person's neurological system to degrade.

Gleeson told U-T San Diego, "Pontocerebellar hypoplasia is one of the specific conditions causing cerebral palsy (0.3% prevalence) and mental retardation (1-3% prevalence) in children, neither of which is considered a rare condition. Pontocerebellar disorder, constituting a subset of these conditions, is less common, perhaps 1:10,000, but epidemiological data does not exist specifically for this condition."

The team found that a nutritional supplement made it easier for nerve cells to survive, raising hope for a treatment. The supplement will soon be treated in mice, possibly leading to clinical trials in humans.